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Population screening; Liver fibrosis; Early diagnosis Cribratge de població; Fibrosi hepàtica; Diagnòstic precoç Cribado de población; Fibrosis hepática; Diagnóstico precoz Cirrhosis, highly prevalent worldwide, develops after years of hepatic inflammation triggering progressive fibrosis. Currently, the main etiologies of cirrhosis are non-alcoholic fatty liver disease and alcohol-related liver disease, although chronic hepatitis B and C infections are still major etiological factors in some areas of the world. Recent studies have shown that liver fibrosis can be assessed with relatively high accuracy noninvasively by serological tests, transient elastography, and radiological methods. These modalities may be utilized for screening for liver fibrosis in at-risk populations. Thus far, a limited number of population-based studies using noninvasive tests in different areas of the world indicate that a significant percentage of subjects without known liver disease (around 5% in general populations and a higher rate −18% to 27%-in populations with risk factors for liver disease) have significant undetected liver fibrosis or established cirrhosis. Larger international studies are required to show the harms and benefits before concluding that screening for liver fibrosis should be applied to populations at risk for chronic liver diseases. Screening for liver fibrosis has the potential for changing the current approach from diagnosing chronic liver diseases late when patients have already developed complications of cirrhosis to diagnosing liver fibrosis in asymptomatic subjects providing the opportunity of preventing disease progression. LiverScreen Consortium and the European Commission under the H20/20 program (847989); AGAUR (2017SGR-01281); Centro de Investigacion Biomedica en Enfermedades Hepaticas y Digestivas; Fundación de Investigación Sanitaria, cofunded by Instituto Carlos III–Subdirección General de Evaluación and the European Regional Development Fund (PI18/01330, PI18/00662, and PI18/00862); and Gilead’s Investigator–sponsored research program (IN-ES-989-5309)

Three new therapies for spinal muscular atrophy (SMA) have been approved by the United States Food and Drug Administration and the European Medicines Agency since 2016. Although these new therapies improve the quality of life of patients who are symptomatic at first treatment, administration before the onset of symptoms is significantly more effective. As a consequence, newborn screening programs have been initiated in several countries. In 2018, we launched a 3-year pilot program to screen newborns for SMA in the Belgian region of Liège. This program was rapidly expanding to all of Southern Belgium, a region of approximately 55,000 births annually. During the pilot program, 136,339 neonates were tested for deletion of exon 7 of SMN1, the most common cause of SMA. Nine SMA cases with homozygous deletion were identified through this screen. Another patient was identified after presenting with symptoms and was shown to be heterozygous for the SMN1 exon 7 deletion and a point mutation on the opposite allele. These ten patients were treated. The pilot program has now successfully transitioned into the official neonatal screening program in Southern Belgium. The lessons learned during implementation of this pilot program are reported., SCOPUS: ar.j, info:eu-repo/semantics/published

Newborn screening; Severe combined immunodeficiency Cribatge nounat; Immunodeficiència combinada severa Cribado neonato; Inmunodeficiencia combinada grave Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disorder, resulting in severe combined immunodeficiency. To date, PNP deficiency has been detected in newborn screening only through the use of liquid chromatography tandem mass spectrometry. We report the first case in which PNP deficiency was detected by TREC analysis. This research was funded by Jeffrey Modell Foundation.

Background: The epidemiological situation generated by COVID-19 has highlighted the importance of applying non-pharmacological measures in the management of the epidemic. Mass screening of the asymptomatic general population has been established as a priority strategy by carrying out diagnostic tests to detect possible cases, isolate contacts, cut transmission chains and thus limit the spread of the virus. Objective: To evaluate the economic impact of mass COVID-19 screenings of an asymptomatic population during the first and second wave of the epidemic in Catalonia, Spain. Methodology: Cost-Benefit Analysis based on the estimated total costs of mass screening versus health gains and associated health costs avoided. Results: Excluding the value of monetized health, the Benefit-Cost ratio was estimated at 0.45, a low value that would seem to advise against mass screening policies. However, if monetized health is included, the ratio is close to 1.20, reversing the interpretation. In other words, the monetization of health is the critical element that tips the scales in favour of the desirability of screening. Results show that the interventions with the highest return are those that maximize the percentage of positives detected. Conclusion: Efficient management of resources for the policy of mass screening in asymptomatic populations can generate high social returns. The positivity rate critically determines its desirability. Likewise, precocity in the detection of cases will cut more transmissions in the chain of contagion and increase the economic return of these interventions. Maximizing the value of resources depends on screening strategies being accompanied by contact-tracing and specific in their focus, targeting, for example, high-risk subpopulations with the highest rate of expected positives.

BELE Study Group leaded by Xavier Castells are listed here in alphabetical order and grouped by institution: (a) IMIM (Hospital Del Mar Medical Research Institute), Barcelona, Spain: Andrea Burón, Xavier Castells, Merce Comas, Jose Maria Corominas, Javier Louro, Ana Rodríguez-Arana, Marta Román, Maria Sala, Sonia Servitja, Mar Vernet-Tomas; (b) Corporació Sanitària Parc Taulí, Sabadell, Spain: Marisa Baré, Nuria Tora; (c) Catalan Institute of Oncology, Barcelona, Spain: Llucia Benito, Carmen Vidal (d) Hospital Santa Caterina, Girona, Spain: Joana Ferrer; (e) Catalan Institute of Oncology, Girona, Spain: Rafael Marcos-Gragera; (f) Hospital de la Santa Creu i Sant Pau, Barcelona, Spain: Judit Solà-Roca, María Jesús Quintana; (g) General Directorate of Public Health, Government of Cantabria, Spain: Mar Sánchez; (h) Principality of Astúrias Health Service, Spain: Miguel Prieto; (i) Fundació Lliga per a La Investigació i Prevenció Del Cáncer, Tarragona, Spain: Francina Saladié, Jaume Galceran; (j) Hospital Clinic, Barcelona, Spain; Xavier Bargalló, Isabel Torá-Rocamora; (k) Vallés Oriental Breast Cancer Early Detection Program, Spain; Lupe Peñalva; (l) Catalonian Cancer Strategy, Barcelona, Spain: Josep Alfons Espinàs. IRIS Study Group leaded by Marta Román are listed here in alphabetical order and grouped by institution: (a) IMIM (Hospital Del Mar Medical Research Institute), Barcelona, Spain: Rodrigo Alcantara, Xavier Castells, Laia Domingo, Javier Louro, Margarita Posso, Maria Sala, Ignasi Tusquets, Ivonne Vazquez, Mar Vernet-Tomas; (b) Corporació Sanitària Parc Taulí, Sabadell, Spain: Marisa Baré, Javier del Riego; (c) Catalan Institute of Oncology, Barcelona, Spain: Llucia Benito, Carmen Vidal (d) Hospital Santa Caterina, Girona, Spain: Joana Ferrer; (e) Catalan Institute of Oncology, Girona, Spain: Rafael Marcos-Gragera; (f) Hospital de la Santa Creu i Sant Pau, Barcelona, Spain: Judit Solà-Roca, María Jesús Quintana; (g) General Directorate of Public Health, Government of Cantabria, Spain: Mar Sánchez; (h) Principality of Astúrias Health Service, Spain: Miguel Prieto; (i) Fundació Lliga per a La Investigació i Prevenció Del Cáncer, Tarragona, Spain: Francina Saladié, Jaume Galceran; (j) Hospital Clinic, Barcelona, Spain; Xavier Bargalló, Isabel Torá-Rocamora; (k) Vallés Oriental Breast Cancer Early Detection Program, Spain; Lupe Peñalva; (l) Catalonian Cancer Strategy, Barcelona, Spain: Josep Alfons Espinàs Background Several studies have proposed personalized strategies based on women’s individual breast cancer risk to improve the effectiveness of breast cancer screening. We designed and internally validated an individualized risk prediction model for women eligible for mammography screening. Methods Retrospective cohort study of 121,969 women aged 50 to 69 years, screened at the long-standing population-based screening program in Spain between 1995 and 2015 and followed up until 2017. We used partly conditional Cox proportional hazards regression to estimate the adjusted hazard ratios (aHR) and individual risks for age, family history of breast cancer, previous benign breast disease, and previous mammographic features. We internally validated our model with the expected-to-observed ratio and the area under the receiver operating characteristic curve. Results During a mean follow-up of 7.5 years, 2,058 women were diagnosed with breast cancer. All three risk factors were strongly associated with breast cancer risk, with the highest risk being found among women with family history of breast cancer (aHR: 1.67), a proliferative benign breast disease (aHR: 3.02) and previous calcifications (aHR: 2.52). The model was well calibrated overall (expected-to-observed ratio ranging from 0.99 at 2 years to 1.02 at 20 years) but slightly overestimated the risk in women with proliferative benign breast disease. The area under the receiver operating characteristic curve ranged from 58.7% to 64.7%, depending of the time horizon selected. Conclusions We developed a risk prediction model to estimate the short- and long-term risk of breast cancer in women eligible for mammography screening using information routinely reported at screening participation. The model could help to guiding individualized screening strategies aimed at improving the risk-benefit balance of mammography screening programs

Background We aimed to identify the risk factors associated with early, late and long-term readmissions in women diagnosed with breast cancer participating in screening programs. Methods We performed a multicenter cohort study of 1055 women aged 50–69 years participating in Spanish screening programs, diagnosed with breast cancer between 2000 and 2009, and followed up to 2014. Readmission was defined as a hospital admission related to the disease and/or treatment complications, and was classified as early ( 1 year). We used logistic regression to estimate the adjusted odds ratios (aOR), and 95% confidence intervals (95% CI) to explore the factors associated with early, late and long-term readmissions, adjusting by women’s and tumor characteristics, detection mode, treatments received, and surgical and medical complications. Results Among the women included, early readmission occurred in 76 (7.2%), late readmission in 87 (8.2%), long-term readmission in 71 (6.7%), and no readmission in 821 (77.8%). Surgical complications were associated with an increased risk of early readmissions (aOR = 3.62; 95%CI: 1.27–10.29), and medical complications with late readmissions (aOR = 8.72; 95%CI: 2.83–26.86) and long-term readmissions (aOR = 4.79; 95%CI: 1.41–16.31). Conclusion Our results suggest that the presence of surgical or medical complications increases readmission risk, taking into account the detection mode and treatments received. Identifying early complications related to an increased risk of readmission could be useful to adapt the management of patients and reduce further readmissions. Trial Registration ClinicalTrials.govIdentifier: NCT03165006. Registration date: May 22, 2017 (Retrospectively registered).

Newborn screening; Severe combined immunodeficiency; T-cell receptor excision circles Cribratge de nadons; Immunodeficiència combinada greu; Cercles d'excisió de receptors de cèl·lules T Cribado de recién nacidos; Inmunodeficiencia combinada grave; Círculos de escisión de receptores de células T Severe combined immunodeficiency (SCID), the most severe form of T-cell immunodeficiency, can be screened at birth by quantifying T-cell receptor excision circles (TRECs) in dried blood spot (DBS) samples. Early detection of this condition speeds up the establishment of appropriate treatment and increases the patient's life expectancy. Newborn screening for SCID started in January 2017 in Catalonia, the first Spanish and European region to universally include this testing. The results obtained in the first 2 years of experience are evaluated here. All babies born between January 2017 and December 2018 were screened. TREC quantification in DBS (1.5 mm diameter) was performed with the Enlite Neonatal TREC kit from PerkinElmer (Turku, Finland). In 2018, the retest cutoff in the detection algorithm was updated based on the experience gained in the first year, and changed from 34 to 24 copies/μL. This decreased the retest rate from 3.34 to 1.4% (global retest rate, 2.4%), with a requested second sample rate of 0.23% and a positive detection rate of 0.02%. Lymphocyte phenotype (T, B, NK populations), expression of CD45RA/RO isoforms, percentage and intensity of TCR αβ and TCR γδ, presence of HLA-DR+ T lymphocytes, and in vitro lymphocyte proliferation were studied in all patients by flow cytometry. Of 130,903 newborns screened, 30 tested positive, 15 of which were male. During the study period, one patient was diagnosed with SCID: incidence, 1 in 130,903 births in Catalonia. Thirteen patients had clinically significant T-cell lymphopenia (non-SCID) with an incidence of 1 in 10,069 newborns (43% of positive detections). Nine patients were considered false-positive cases because of an initially normal lymphocyte count with normalization of TRECs between 3 and 6 months of life, four infants had transient lymphopenia due to an initially low lymphocyte count with recovery in the following months, and three patients are still under study. The results obtained provide further evidence of the benefits of including this disease in newborn screening programs. Longer follow-up is needed to define the exact incidence of SCID in Catalonia.

CAMISS Study Group (in alphabetical order): IMIM (Hospital del Mar Medical Research Institute), Barcelona: Xavier Castells, Merce` Comas, Laia Domingo, Francesc Macia`, Marta Roman, Anabel Romero, Maria Sala; Canary Islands Health Service: Teresa Barata, Isabel Diez de la Lastra, Mariola de la Vega; Corporacio´ Sanitaria Parc Taul´ı, Sabadell: Marisa Bare´, Nu´ria Tora`; Hospital Santa Caterina, Girona: Joana Ferrer; Epidemiology Unit and Girona Cancer Registry: Maria Carmen Carmona-Garcia; Hospital GaldakaoUsansolo, Vizcaya: Susana Garc´ıa, Maximina Mart´ın, Miren Orive, Maria Amparo Valverde; Canary Islands Foundation for Health Research: Jeanette Pe´rez, Amado Rivero, Cristina Valca´rcel; Hospital Costa del Sol, University of Ma´laga: Mar´ıa del Carmen Padilla, Maximino Redondo, Teresa Te´llez, Irene Zarcos; Hospital Universitario Donostia/Biodonostia: Cristina Churruca, Amaia Perales, Javier Recio, Irune Ruiz, Cristina Sarasqueta, Jose Mar´ıa Urraca; Instituto Oncolo´gico de Guipu´zcoa-Onkologikoa: Maria Jesu´s Michelena; Hospital Universitario Basurto: Julio Moreno; Hospital Universitario Cruces: Gaizka Mallabiabarrena, Patricia Cobos, Borja Otero; Hospital Universitario Txagorritxu: Javier Gorostiaga, Itsaso Troya Background. Our aim was to assess the role of breast density on breast cancer mortality and recurrences, considering patient and tumour characteristics and the treatments received among women attending population-based screening programmes. Methods. We conducted a retrospective cohort study among women aged 50–69 years attending population-based screening programmes, diagnosed with invasive breast cancer between 2000 and 2009, and followed up to 2014. Breast density was categorised as low density (≤25% dense tissue), intermediate density (25–50%), and high density (≥50%). Cox proportional hazards regression models were fitted to estimate the adjusted hazard ratios (aHR) and 95% confidence intervals (95% CI) for death and recurrences, adjusting by patient characteristics, mode of detection (screen-detected vs. interval cancer), and tumour features. Results. The percentage of deaths and recurrences was higher among women with intermediate- and high-density breasts than among women with low-density breasts ( for death; for recurrences). Adjusted Cox proportional hazards regression models revealed that women with intermediate- and high-density breasts had a higher risk of death than women with low-density breasts, being statistically significant for intermediate densities (aHR = 2.19 [95% CI: 1.16–4.13], aHR = 1.44 [95% CI: 0.67–3.1], respectively). No association was found between breast density and recurrences. Conclusions. Breast density was associated with a higher risk of death, but not of recurrences, among women participating in breast cancer screening. These findings reinforce the need to improve screening sensitivity among women with dense breasts and to routinely assess breast density, not only for its role as a risk factor for breast cancer but also for its potential influence on cancer prognosis *is study was supported by grants from Instituto de Salud Carlos III FEDER (grant numbers: PS09/01153, PI12/00387, PI11/01296, PI15/ 00098, and PI16/00244) and by the Research Network on Health Services in Chronic Diseases (Instituto de Salud Carlos III) (REDISSEC: RD12/0001/0015, RD12/0001/ 0007, and RD16/0001/0013)

Altres ajuts: The project received a research grant from the Carlos III Institute of Health, Ministry of Economy and Competitiveness (Spain), awarded on the 2010 call under the Health Strategy Action 2013-16, within the National Research Program oriented to Societal Challenges within the Technical, Scientific and Innovation Research National Plan 2013-16 with reference PI10/01275 co-funded with European Union ERDF funds. Additional support was provided by the European Regional Development Fund (ERDF), public grants from the Carlos III Institute of Health (RTIC RD06/0020/0095 RD12/0036/0056 and CIBERESP) and the Agència de Gestió d'Ajuts Universitaris i de Recerca (grants AGAUR 2014SGR1077 and 2014SGR2016) and the Primary Health Care Unit IDIAP Jordi Gol and the Catalan Institute of Health resolved 07/04/2014. Background. Opportunistic cervical cancer screening can lead to suboptimal screening coverage. Coverage could be increased after a personalised invitation to the target population. We present a community randomized intervention study with three strategies aiming to increase screening coverage.Methods. The CRICERVA study is a community-based clinical trial to improve coverage of population based screening in the Cerdanyola SAP area in Barcelona.A total of 32,858 women residing in the study area, aged 30 to 70 years were evaluated. A total of 15,965 women were identified as having no registration of a cervical cytology in the last 3.5 years within the Public Health data base system. Eligible women were assigned to one of four community randomized intervention groups (IGs): (1) (IG1 N = 4197) personalised invitation letter, (2) (IG2 N =3601) personalised invitation letter + informative leaflet, (3) (IG3 N = 6088) personalised invitation letter + informative leaflet + personalised phone call and (4) (Control N = 2079) based on spontaneous demand of cervical cancer screening as officially recommended. To evaluate screening coverage, we used heterogeneity tests to compare impact of the interventions and mixed logistic regression models to assess the age effect. We refer a ªrescueº visit as the screening visit resulting from the study invitation. Results. Among the 13,886 women in the IGs, 2,862 were evaluated as having an adequate screening history after the initial contact; 4,263 were lost to follow-up and 5,341 were identified as having insufficient screening and thus being eligible for a rescue visit. All intervention strategies significantly increased participation to screening compared to the control group. Coverage after the intervention reached 84.1% while the control group reached 64.8%. The final impact of our study was an increase of 20% in the three IGs and of 9% in the control group (p

Càncer colorectal; Cribratge; Factors socioeconòmics Neoplasias colorrectales; Cribado; Factores socioeconómicos Colorectal Neoplasms; Screening; Socioeconomic Factors BACKGROUND Screening with faecal occult blood tests reduces colorectal cancer-related mortality; however, age, sex and socioeconomic factors affect screening outcomes and could lead to unequal mortality benefits. The aim of this study was to describe the main outcomes of the population-based Barcelona colorectal cancer screening programme (BCRCSP) by deprivation. METHODS: Retrospective study of the eligible population of the first round of the BCRCSP. Participants' postal addresses were linked with the MEDEA database to obtain the deprivation quintiles (Dq). Chi-squared tests were used to compare proportions across variables and logistic regression was used to estimate the adjusted effects of age, sex and deprivation on uptake, FIT positivity, colonoscopy adherence and advanced neoplasia detection rate. RESULTS: Overall uptake was 44.7%, higher in Dq2, 3 and 4 (OR 1.251, 1.250 and 1.276, respectively) than in the least deprived quintile (Dq 1), and lowest in Dq5 (OR 0.84). Faecal immunochemical test (FIT) positivity and the percentage of people with detectable faecal haemoglobin below the positivity threshold increased with deprivation. The advanced neoplasia detection rate was highest in Dq4. CONCLUSION: Unlike most regions where inequalities are graded along the socioeconomic continuum, inequalities in the uptake of colorectal cancer screening in Spain seem to be concentrated first in the most disadvantaged group and second in the least deprived group. The correlation of deprivation with FIT-positivity and faecal haemoglobin below the positivity threshold is worrying due to its association with colorectal cancer and overall mortality.